Varaico: Literature-Extracted Genetic Variants

Gene:KMT2A
Variant:p.C1158Y
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KMT2A

NM_001197104.2:p.C1158Y

Associated Papers

Clinical Characteristics of KMT2A Gene-Related Wiedemann-Steiner Syndrome and Progress in Recombinant Human Growth Hormone Therapy for Short-Stature Children.

Yue X et al.

Clinical Endocrinology, 2025

Diagnosis and recombinant human growth hormone treatment of Wiedemann-Steiner syndrome: discovery of novel KMT2A variants and review of existing literature.

Wang M et al.

Bmc Pediatrics, 2025

40604511 (PubMed )
Supplement: 12887_2025_5751_MOESM3_ESM.xlsx › Sheet3

Elucidating the role of MLL1 nsSNPs: Structural and functional alterations and their contribution to leukemia development.

Al-Nakhle HH et al.

Plos One, 2024

Wiedemann-Steiner Syndrome: Case Report and Review of Literature.

Yu H et al.

Children (basel, Switzerland), 2022

36291481 (PubMed )
Supplement: children-09-01545-s001.zip › children-1912335-supplementary.pdf

Expanding the phenotype of Wiedemann-Steiner syndrome: Craniovertebral junction anomalies.

Giangiobbe S et al.

American Journal of Medical Genetics. Part A, 2020

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."